Diamond Blackfan Anemia 1 C2676137
A rare genetic blood disorder where bone marrow fails to produce enough red blood cells. Usually appears in infancy and is treated with medications, transfusions, or stem cell transplant.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Acute leukemia transformation
Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Macrocytic anemia
(hematologic)Congenital physical anomalies
(hematologic)Growth retardation
(hematologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Corticosteroid therapy
Prednisone or prednisolone is the first-line treatment for Diamond-Blackfan anemia, inducing red blood cell production in approximately 50-70% of patients. Response may take several weeks to become apparent.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
Red blood cell transfusions
Regular packed red blood cell transfusions maintain adequate hemoglobin levels in patients who are steroid-unresponsive or steroid-intolerant. Transfusion schedules are individualized based on hemoglobin decline rates.
procedureHematopoietic stem cell transplantation
Stem cell transplantation offers potential cure for Diamond-Blackfan anemia when a suitable donor is available. This treatment is reserved for transfusion-dependent patients who fail or cannot tolerate other therapies.
surgicalIron chelation therapy
Patients receiving regular blood transfusions develop iron overload that damages vital organs. Chelation therapy with appropriate agents removes excess iron accumulated from transfusions.
medicationGenetic testing and family counseling
Molecular genetic testing confirms Diamond-Blackfan anemia diagnosis and identifies causative mutations. Genetic counseling helps families understand inheritance patterns and recurrence risks.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Diamond Blackfan Anemia 1 C2676137?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Diamond Blackfan Anemia 1 C2676137. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy